Cargando…

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical examination, two patients were investigated via next generati...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701866/ https://www.ncbi.nlm.nih.gov/pubmed/34946871 http://dx.doi.org/10.3390/genes12121922

Ejemplares similares

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
por: Chikhaoui, Asma, et al.
Publicado: (2022)

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
por: Bouchoucha, Sami, et al.
Publicado: (2023)

Diagnostic and severity scores for Cockayne syndrome
por: Spitz, M. A., et al.
Publicado: (2021)

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
por: Najjar, Dorra, et al.
Publicado: (2022)

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome
por: Epanchintsev, Alexey, et al.
Publicado: (2020)

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B
por: Damaj-Fourcade, Rayanne, et al.
Publicado: (2022)

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome
por: Crochemore, Clément, et al.
Publicado: (2023)

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
por: Taghdiri, Maryam, et al.
Publicado: (2017)

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome
por: Xie, Hua, et al.
Publicado: (2017)

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family
por: He, Chunxia, et al.
Publicado: (2017)

Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
por: Zhang, Qin, et al.
Publicado: (2019)

A possible cranio-oro-facial phenotype in Cockayne syndrome
por: Bloch-Zupan, Agnès, et al.
Publicado: (2013)

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases
por: Bouchoucha, Sami, et al.
Publicado: (2020)

Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort
por: Douma, Bissene, et al.
Publicado: (2021)

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
por: Yu, Shanshan, et al.
Publicado: (2014)

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
por: Chebly, Alain, et al.
Publicado: (2018)

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

CSB promoter downregulation via histone H3 hypoacetylation is an early determinant of replicative senescence
por: Crochemore, Clément, et al.
Publicado: (2019)

Cockayne syndrome
por: Khan, Firosh, et al.
Publicado: (2008)

Mixed movement disorders revealing an atypical form of creatine deficiency syndrome
por: Nasrallah, Fahmi, et al.
Publicado: (2015)

Rasmussen's Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review
por: Klaa, Hedia, et al.
Publicado: (2020)

Pseudopapilledema in Cockayne syndrome
por: Brodsky, Michael C., et al.
Publicado: (2021)

Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years
por: Ben Achour, Nedia, et al.
Publicado: (2017)

The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
por: Rouissi, Kamel, et al.
Publicado: (2011)

Genetic Diagnosis of Cockayne Syndrome
por: Patel, Rifali
Publicado: (2020)

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome
por: Lin, Ching-Ming, et al.
Publicado: (2021)

Cockayne Syndrome Misdiagnosed as Cerebral Palsy
por: VAFAEE, Amiereza, et al.
Publicado: (2018)

Xeroderma pigmentosum-Cockayne syndrome complex
por: Natale, Valerie, et al.
Publicado: (2017)

Xeroderma pigmentosum-Cockayne syndrome complex
por: Dev, Nishanth, et al.
Publicado: (2020)

Nuclear Mitochondrial DNA Activates Replication in Saccharomyces cerevisiae
por: Chatre, Laurent, et al.
Publicado: (2011)

Prevalent coordination of mitochondrial DNA transcription and initiation of replication with the cell cycle
por: Chatre, Laurent, et al.
Publicado: (2013)

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
por: Stafki, Seth A., et al.
Publicado: (2023)

Valproate adverse effects on creatine metabolism and transport in a patient under drug therapy
por: Nasrallah, Fahmi, et al.
Publicado: (2014)

Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells
por: Pascucci, Barbara, et al.
Publicado: (2016)

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation
por: Lanzafame, Manuela, et al.
Publicado: (2021)

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review
por: Kou, Yao, et al.
Publicado: (2018)

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
por: Nabouli, Imen, et al.
Publicado: (2021)

Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins
por: Iyama, Teruaki, et al.
Publicado: (2018)

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
por: Chikhaoui, Asma, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_8oiaanuhupbk305nimefujr1ah